Johns Hopkins Outpatient Center
Appointment Phone: 410-614-0093

Johns Hopkins Bayview Medical Center
Appointment Phone: 410-614-0093

Background

Dr. Charlotte Sumner cares for patients with a variety of neuromuscular disorders. Her practice is notable for a particular focus on individuals with inherited neuromuscular diseases of peripheral nerves and motor neurons, including spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease.

Dr. Sumners research similarly focuses on inherited motor neuron and peripheral nerve diseases. Specifically, she studies the molecular pathogenesis of different forms of SMA with particular attention to therapeutics development for these disorders. Recent work has explored the efficacy of histone deacetylase inhibitors in the treatment of SMA.

Following undergraduate studies at Princeton University, Dr. Charlotte Sumner received her medical degree from the University of Pennsylvania School of Medicine. She then completed an internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a neuromuscular fellowship at The Johns Hopkins University and a neurogenetics fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke. She joined the neurology faculty at Hopkins in 2006.

Board Certifications

Research & Publications

Research Summary

Dr. Sumner’s research focuses on understanding the molecular mechanisms that cause the devastating motor neuron disease spinal muscular atrophy, the leading inherited cause of infant mortality. Dr. Sumner’s laboratory has demonstrated that impaired synaptic connectivity precedes motor neuron death in SMA providing a window of opportunity for effective treatment. In addition, in more recent studies, the Sumner lab also discovered novel long noncoding RNAs that regulate the survival motor neuron (SMN) gene (which is deficient in SMA) and identified ways to block these RNAs as a method to activate SMN expression. These lncRNA represent completely novel therapeutic targets in SMA patients and their therapeutic potential in animal models and human cells is currently being explored. This research has been supported by funding from SMART (Spinal Muscular Atrophy Research Team), a nonprofit organization that aims to raise awareness and funds for research aimed at finding a cure for SMA and related diseases. To date, the SMART funding has resulted in publication of one study in the Journal of Neuroscience "Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy” and further publications enabled by SMART support are forthcoming soon.